Noninvasive fetal variant identification using haplotype analysis

EP4619548A1Pending Publication Date: 2025-09-24IDENTIFAI GENETICS LTD
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Patent Information

Application Number
EP2023891024
Authority / Receiving Office
EP · EP
Patent Type
Applications
Current Assignee / Owner
Priority Date
2022-11-15
Filing Date
2023-11-15
Publication Date
2025-09-24

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Abstract

Disclosed are non-invasive methods for genotyping a fetus, comprising the analysis of sequencing data of maternal cell-free DNA (cfDNA), and parental (maternal and optionally paternal) genomic DNA (gDNA) from a pair parenting the fetus. Using a variant calling approach and optionally fragmentomics-based analysis, combined with identification of haplotypes, accurate genotype predictions are obtained.
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